Population prevalence of hereditary breast cancer phenotypes and implementation of a genetic cancer risk assessment program in southern Brazil

Genetics and Molecular Biology

Volumn 32, Issue 3, 2009, Pages 447-455

  Palmero, Edenir I ^a,b   Caleffi, Maira ^c   Schüler Faccini, Lavínia ^a,b,d   Roth, Fernanda L ^a   Kalakun, Luciane ^a   Netto, Cristina Brinkmann Oliveira ^b   Skonieski, Giovana ^c   Giacomazzi, Juliana ^a,b   Weber, Bernadete ^c   Giugliani, Roberto ^a,b,d   Camey, Suzi A ^a   Ashton Prolla, Patricia ^a,b,d  

^a FEDERAL UNIVERSITY OF RIO GRANDE DO SUL   (Brazil)

^b HOSPITAL DE CLÍNICAS DE PORTO ALEGRE   (Brazil)

^c HOSPITAL MOINHOS DE VENTO   (Brazil)

^d Instituto Nacional de Genética Médica Populacional INAGEMP   (Brazil)

Author keywords

Breast cancer; Genetic counseling; Hereditary cancer syndromes

Indexed keywords

ADULT; ARTICLE; BRAZIL; BREAST CANCER; CANCER INCIDENCE; CANCER MORTALITY; CANCER RISK; CANCER SUSCEPTIBILITY; COMMUNITY CARE; CONTROLLED STUDY; FAMILIAL CANCER; FAMILY HISTORY; FEMALE; FOLLOW UP; GENETIC COUNSELING; GENETIC RISK; HEALTH PROGRAM; HUMAN; OBESITY; PEDIGREE; PHENOTYPE; POPULATION GENETICS; RISK ASSESSMENT; SMOKING; WOMEN'S HEALTH;

EID: 69949107686     PISSN: 14154757     EISSN: 16784685     Source Type: Journal    
DOI: 10.1590/S1415-47572009005000058     Document Type: Article

References (60)

1. Achat H, Close G and Taylor R (2005) Who has regular mammograms? Effects of knowledge, beliefs, socioeconomic status, and health-related factors. Prev Med 41:312-320.
2. Achatz MI, Olivier M, Le Calvez F, Martel-Planche G, Lopes A, Rossi BM, Ashton-Prolla P, Giugliani R, Palmero EI and Vargas FR (2007) The TP53 mutation, R337H, is associated with Li-Fraumeni and Li-Fraumeni-like syndromes in Brazilian families. Cancer Lett 245:96-102.
3. Anglian Breast Cancer Study Group (2000) Prevalence and penetrance of BRCA1 and BRCA2 mutations in a population-based series of breast cancer cases. Br J Cancer 83:1301-1308.
4. Antoniou AC, Gayther SA, Stratton JF, Ponder BA and Easton DF (2000) Risk models for familial ovarian and breast cancer. Genet Epidemiol 18:173-190.
5. Antoniou AC, Pharoah PD, McMullan G, Day NE, Stratton MR, Peto J, Ponder BJ and Easton DF (2002) A comprehensive model for familial breast cancer incorporating BRCA1, BRCA2 and other genes. Br J Cancer 86:76-83.
6. ASCO (1996) Subcommittee on genetic testing for cancer susceptibility. Statement of the American Society of Clinical Oncology: Genetic testing for cancer susceptibility. J Clin Oncol 14:1730-1736.
7. Banks E, Beral V, Cameron R, Hogg A, Langley N, Barnes I, Bull D, Reeves G, English R, Taylor S, et al. (2002) Comparison of various characteristics of women who do and do not attend for breast cancer screening. Breast Cancer Res 4:R1.
8. Birch JM, Hartley AL, Tricker KJ, Prosser J, Condie A, Kelsey AM, Harris M, Jones PH, Binchy A, Crowther D, et al. (1994) Prevalence and diversity of constitutional mutations in the p53 gene among Li-Fraumeni families. Cancer Res 54:1298-1304.
9. Brasil, Ministério da Saúde (2003a) Programa Saúde da Família: Ampliando a cobertura para consolidar a mudança do modelo de Atenção Básica. Rev Bras Saúde Materno-Infantil 3:113-125.
10. Brasil, Ministério da Saúde (2003b) Câncer no Brasil: Dados dos Registros de Base Populacional. Secretaria de Assistência à Saúde. Instituto Nacional do Câncer, Rio de Janeiro, 125 pp.
11. Cadaval Gonçalves AT, Costa Jobim PF, Vanacor R, Nunes LN, Martins de Albuquerque I and Bozzetti MC (2007) Increase in breast cancer mortality in Southern Brazil from 1980 to 2002. Cad Saúde Pública 23:1785-1790.
12. Caleffi M, Ribeiro RA, Duarte Filho DL, Ashton-Prolla P, Bedin Jr AJ, Skonieski GP, Zignani JM, Giacomazzi J, Franco LR, Graudenz M, et al. (2009) A model to optimize public health care and downstage breast cancer in limited-resource populations in Southern Brazil (Porto Alegre Breast Health Intervention Cohort). BMC Public Health 9:83.
13. Chin TM, Tan SH, Lim SE, Iau P, Yong WP, Wong SW and Lee SC (2005) Acceptance, motivators, and barriers in attending breast cancer genetic counseling in Asians. Cancer Detect Prev 29:412-418.
14. Claus EB, Risch N and Thompson D (1994) Autosomal dominant inheritance of early-onset breast cancer. Implications for risk prediction. Cancer 73:643-651.
15. Couch FJ, DeShano ML, Blackwood MA, Calzone K, Stopfer J, Campeau L, Ganguly A, Rebbeck T and Weber BL (1997) BRCA1 mutations in women attending clinics that evaluate the risk of breast cancer. N Engl J Med 336:1409-1415.
16. De la Chapelle A and Peltromäki P (1998) The genetics of hereditary common cancers. Curr Opin Genet Dev 8:298-303.
17. De Silva D, Gilbert F, Needham G, Deans H, Turnpenny P and Haites N (1995) Identification of women at high genetic risk of breast cancer through the National Health Service Breast Screening Programme. J Med Genet 32:862-866.
18. Domchek SM, Eisen A, Calzone K, Stopfer J, Blackwood A and Weber BL (2003) Application of breast cancer risk prediction models in clinical practice. J Clin Oncol 21:593-601.
19. Domchek SM, Blackwood MA, Tweed AJ, Greshock J, Stopfer J, Stratton M, Easton D, Jablon L, Olopade O and Weber BL (2004) University of Pennsylvania BRCA1/BRCA2 prediction model. In: Abstract Presented at the Cancer Risk Prediction Models: A Workshop on Development, Evaluation, and Application. Washington, D.C.
20. Eeles RA (1995) Germline mutations in the TP53 gene. Cancer Surv 25:101-124.
21. Eng C (1997) Cowden syndrome. J Genet Counsel 6:181-191.
22. Farmer D, Reddick B, D'Agostino R and Jackson SA (2007) Psychosocial correlates of mammography screening in older African American women. Oncol Nurs Forum 34:117-123.
23. Finney MF, Tumiel-Berhalter LM, Fox C and Jaen CR (2006) Breast and cervical cancer screening for Puerto Ricans, African Americans, and non-Hispanic Whites attending innercity family practice centers. Ethn Dis 16:994-1000.
24. Ford D, Easton DF, Stratton M, Narod S, Goldgar D, Devilee P, Bishop DT, Weber B, Lenoir G, Chang-Claude G, et al. (1998) Genetic heterogeneity and penetrance analysis of the BRCA1 and BRCA2 genes in breast cancer families. The Breast Cancer Linkage Consortium. Am J Hum Genet 62:676-689.
25. Frank TS, Deffenbaugh AM, Reid JE, Hulick M, Ward BE, Lingenfelter B, Gumpper KL, Scholl T, Tavtigian SV, Pruss DR, et al. (2002) Clinical characteristics of individuals with germline mutations in BRCA1 and BRCA2: Analysis of 10,000 individuals. J Clin Oncol 20:1480-1490.
26. Gail MH, Brinton LA, Byar DP and Corler DK (1989) Projecting individualized probabilities of developing breast cancer for white females who are being examined anually. J Natl Cancer Inst 81:1879-1886.
27. Guillem JG, Wood WC, Moley JF, Berchuck A, Karlan BY, Mutch DG, Gagel RF, Weitzel J, Morrow M, Weber BL, et al. (2006) ASCO/SSO review of current role of risk-reducing surgery in common hereditary cancer syndromes. J Clin Oncol 24:4642-4660.
28. Hall IJ, Burke W, Coughlin S and Lee NC (2001) Population-based estimates of the prevalence of family history of cancer among women. Community Genet 4:134-142.
29. Harzheim E, Duncan BB, Stein AT, Cunha CR, Gonçalves MR, Trindade TG, Oliveira MM and Pinto ME (2006) Quality and effectiveness of different approaches to primary care delivery in Brazil. BMC Health Serv Res 6:156.
30. Hofstede G (1997) Cultures and Organizations. McGraw-Hill, New York, 279 pp.
31. Hoskins KF, Zwaagstra A and RanzM(2006) Validation of a tool for identifying women at high risk for hereditary breast cancer in population-based screening. Cancer 107:1769-1776.
32. Hughes KS, Roche C, Campbell CT, Siegel N, Salisbury L, Chekos A, Katz MS and Edell E (2003) Prevalence of family history of breast and ovarian cancer in a single primary care practice using a self-administered questionnaire. Breast J 9:19-25.
33. Li FP and Fraumeni Jr JF (1969) Soft-tissue sarcomas, breast cancer, and other neoplasms. A familial syndrome? Ann Intern Med 71:747-752.
34. Li FP, Fraumeni Jr JF, Mulvihill JJ, Blattner WA, Dreyfus MG, Tucker MA and Miller RW (1988) A cancer family syndrome in twenty-four kindreds. Cancer Res 48:5358-5362.
35. Llerena Jr JC (2002) Medical genetics, Single Brazilian Health System (SUS) and integrated aspect in health attention and care. Ciênc Saúde Coletiva 7:17-41.
36. Margolin S and Lindblom A (2006) Familial breast cancer, underlying genes, and clinical implications: A review. Crit Rev Oncog 12:75-113.
37. Meijers-Heijboer H, Wijnen J, Vasen H, Wasielewski M, Wagner A, Hollestelle A, Elstrodt F, van den Bos R, de Snoo A, Fat GT, et al. (2003) The CHEK2 1100delC mutation identifies families with a hereditary breast and colorectal cancer phenotype. Am J Hum Genet 72:1308-1314.
38. Miki Y, Swenson J, Shattuck-Eidens D, Futreal PA, Harshman K, Tavtigian S, Liu Q, Cochran C, Bennett LM, Ding W, et al. (1994) A strong candidate for the breast and ovarian cancer susceptibility gene BRCA1. Science 266:66-71.
39. Nelson HD, Huffman LH, Fu R, Harris EL and U.S. Preventive Services Task Force (2005) Genetic risk assessment and BRCA mutation testing for breast and ovarian cancer susceptibility: Systematic evidence review for the U.S. Preventive Services Task Force. Ann Intern Med 143:362-379.
40. O'Neill SM, Peters JA, Vogel VG, Feingold E and Rubinstein WS (2006) Referral to cancer genetic counseling: Are there stages of readiness? Am J Med Genet C - Semin Med Genet 142:221-231.
41. O'Malley AS, Forrest CB and Mandelblatt J (2002) Adherence of low-income women to cancer screening recommendations. J Gen Intern Med 17:144-154.
42. Offit K (1998) Clinical Cancer Genetics: Risk Counseling and Management. Wiley-Liss, New York, 420 pp.
43. Palmero EI, Kalakun L, Schüler-Faccini L, Giugliani R, Regla Vargas F, Rocha JC and Ashton-Prolla P (2007a) Cancer genetic counseling in public health care hospitals: The experience of three Brazilian services. Community Genet 10:110-119.
44. Palmero EI, Ashton-Prolla P, da Rocha JC, Vargas FR, Kalakun L, Blom MB, Azevedo SJ, Caleffi M, Giugliani R and Schuler-Faccini L (2007b) Clinical characterization and risk profile of individuals seeking genetic counseling for hereditary breast cancer in Brazil. J Genet Couns 16:363-371.
45. Palmero EI, Schüler-Faccini L, Caleffi M, Achatz MI, Olivier M, Martel-Planche G, Marcel V, Aguiar E, Giacomazzi J, Ewald IP, et al. (2008) Detection of R337H, a germline TP53 mutation predisposing to multiple cancers, in asymptomatic women participating in a breast cancer screening program in Southern Brazil. Cancer Lett 261:21-25.
46. Palomaki GE, McClain MR, Steinart K, Sifri R, LoPresti L and Haddow JE (2006) Screen-positive rates and agreement among six family history screening protocols for breast/ovarian cancer in a population-based cohort of 21- to 55-year-old women. Genet Med 8:161-168.
47. Penchaszadeh VB (2000) Community genetics in Latin America: Challenges and perspectives. Community Genet 3:124-127.
48. Peto J, Collins N, Barfoot R, Seals S, Warren W, Rahman N, Easton DF, Evans C, Deacon J and Stratton MR (1999) Prevalence of BRCA1 and BRCA2 gene mutations in patients with early-onset breast cancer. J Natl Cancer Inst 91:943-949.
49. Pharoah PD, Lipscombe JM, Redman KL, Day NE, Easton DF and Ponder BA (2000) Familial predisposition to breast cancer in a British population: Implications for prevention. Eur J Cancer 36:773-779.
50. Pinto EM, Billerbeck AE, Villares MC, Domenice S, Mendonca BB and Latronico AC (2004) Founder effect for the highly prevalent R337H mutation of tumor suppressor p53 in Brazilian patients with adrenocortical tumors. Arq Bras Endocrinol Metabol 48:647-650.
51. Ramalho AS and Silva RB (2000) Community genetics: A new discipline and its application in Brazil. Cad Saude Publica 16:261-263.
52. Ricker C, Lagos V, Feldman N, Hiyama S, Fuentes S, Kumar V, Gonzalez K, Palomares M, Blazer K, Lowstuter K, et al. (2006) If we build itwill they come? - Establishing a cancer genetics services clinic for an underserved predominantly latina cohort. J Genet Couns 15:505-514.
53. Russell KM, Perkins SM, ZollingerTWand Champion VL (2006) Sociocultural context of mammography screening use. Oncol Nurs Forum 33:105-112.
54. Shattuck-Eidens D, Oliphant A, McClure M, McBride C, Gupte J, Rubano T, Pruss D, Tavtigian SV, Teng DH, Adey N, et al. (1997) BRCA1 sequence analysis in women at high risk for susceptibility mutations. Risk factor analysis and implications for genetic testing. JAMA 278:1242-1250.
55. Smith RA, Caleffi M, Albert US, Chen TH, Duffy SW, Franceschi D, Nystrom L and Global Summit Early Detection and Access to Care Panel (2006) Breast cancer in limited-resource countries: Early detection and access to care. Breast J 12(Suppl 1):S16-S26.
56. Srivastava A, McKinnon W and Wood ME (2001) Risk of breast and ovarian cancer in women with strong family histories. Oncology 15:889-902.
57. Tyrer J, Duffy SW and Cuzick J (2005) A breast cancer prediction model incorporating familial and personal risk factors. Stat Med 23:1111-1130. Erratum in: Stat Med (2005) 24:156.
58. Vahteristo P, Bartkova J, Eerola H, Syrjakoski K, Ojala S, Kilpivaara O, Tamminen A, Kononen J, Aittomaki K, Heikkila P, et al. (2002) A CHEK2 genetic variant contributing to a substantial fraction of familial breast cancer. Am J Hum Genet 71:432-438.
59. Varley JM, McGown G, Thorncroft M, James LA, Margison GP, Forster G, Evans DG, Harris M, Kelsy AM and Birch JM (1999) Are there low-penetrance TP53 alleles? Evidence from childhood adrenocortical tumors. Am J Hum Genet 65:995-1006.
60. Wooster R, Neuhausen SL, Mangion J, Quirk Y, Ford D, Collins N, Nguyen K, Seal S, Tran T, Averill D, et al. (1994) Localization of a breast cancer susceptibility gene, BRCA2 to chromosome 13q12-13. Science 265:2088-2090.